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The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.

The capacity for children to self-regulate is an important developmental task of early childhood, with caregivers playing an integral role in self-regulation development. While caregivers' emotions and behaviors are known to impact child self-regulatory capacity, the impact of child self-regulation difficulties on parents is less understood. 

Lesbian, Gay, Bisexual, Transgender, Intersex, Queer, Asexual/Aromantic (LGBTIQA+) people and other individuals with diverse sexual orientation, sex and/or gender identity experience intimate partner violence (IPV) at higher rates than non-LGBTIQA+ people but often receive inconsistent culturally competent healthcare, which deters help-seeking.

Repetitive Negative Thinking (RNT) during pregnancy is a key risk factor for psychopathology in the perinatal period. However, the cognitive mechanisms underlying prenatal RNT remain poorly understood. Recent research has suggested that a tendency to volitionally seek negative rather than positive information (i.e., biased information seeking) may contribute to the formation of more negative prenatal expectations, which in turn predict elevated prenatal RNT.

The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.

Thyroid hormones affect neurological development and function, but detailed studies of thyroid hormones and metabolites in autism are lacking. The objective was t characterize thyroid function and metabolism in autistic children.

The autistic and autism communities have identified improving the quality of life and well-being of autistic people as a key priority. Despite this, to date, there are no evidence-based supports for autistic children which specifically focus on improvements in these areas.

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Research on the health literacy of parents with children with intellectual disability is limited. Understanding parents' healthcare skills and needs is essential for improving children's health and developing effective support. In this study we aimed to (1) explore the health literacy skills of parents that enabled them to support the health needs of their child with intellectual disability and the factors influencing these skills, and (2) identify opportunities to support parent health literacy.

To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence.  This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.